Results 91 to 100 of about 2,635 (188)

Iridolenticular coloboma with butterfly shaped chorioretinal coloboma

Indian Journal of Ophthalmology. Case Reports, 2022
Ekta Gupta, Rajwinder Kaur, Balbir Khan, Anupriya   +3 more
doaj   +1 more source

Relative anterior microphthalmos in oculodentodigital dysplasia

Indian Journal of Ophthalmology, 2018
Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation
Orsolya Orosz, Mariann Fodor, István Balogh, Gergely Losonczy   +3 more
doaj   +1 more source

Microcornea with myopia. [PDF]

British Journal of Ophthalmology, 1967
D V, Batra, S D, Paul
openaire   +2 more sources

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria [PDF]

, 2008
Unobstructed vision requires a particular refractive index of the lens, a measure based on the organization of the structural proteins within the differentiated lens cells.
Neidhardt, John, Nürnberg, Peter, Schipper, I, Berger, Wolfgang, Zeitz, C, Kloeckener-Gruissem, Barbara, Vandekerckhove, K, Nürnberg, Gudrun, Zeitz, Christina, Vandekerckhove, Kristof, Schipper, Isaak, Kloeckener-Gruissem, B, Neidhardt, J, Berger, W, Nürnberg, G, Nürnberg, P   +15 more
core   +1 more source

A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2

, 2009
Objective: To report a novel phenotype of autosomal dominant atypical congenital cataract associated with variable expression of microcornea, microphthalmia, and iris coloboma linked to chromosome 2.
Schorderet, Daniel F., Munier, Francis L., Abouzeid, Hana, Osman, Ihab, Bolay, Sylvain, Munier, Francis, Schorderet, Daniel, ElShakankiri, Nihal, Meire, Francoise M., Meire, Françoise   +9 more
core   +1 more source

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

, 2003
AIM: To phenotype and genetically map the disease locus in a family presenting with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Moore, AT, Patel, RJ, Maher, Eamonn, Berry, V, Kumar, R, Bhattacharya, SS, Francis, PJ, Bradshaw, K, Reddy, MA   +8 more
core   +1 more source

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

, 2015
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained.
Sanaa Muheisen, Ariana Kariminejad, Elena V Semina, Elena V. Semina (334068), Linda M. Reis (696237), Razieh H. R. Borujerdi (696236), Brett Deml, Linda M Reis, Brett Deml (696234), Ariana Kariminejad (696235), Razieh H R Borujerdi, Sanaa Muheisen (349545)   +11 more
core   +1 more source

Non-fundus visual prognosis indicators in cataract patients with congenital iridochoroidal coloboma

Eye Science
Purpose: To identify non-fundus visual prognosis indicators in cataract patients with congenital iridochoroidal coloboma. Methods: Medical records of patients with congenital iridochoroidal coloboma who underwent cataract surgery were reviewed.
Siyuan Liu, Yimeng Zhang, Feiyan Liang, Xialin Liu, Danying Zheng, Shuxin Fan, Shengsong Huang   +6 more
doaj   +1 more source

Cataract-microcornea syndrome [PDF]

, 2020
openaire   +1 more source

Significant Visual Rehabilitation After Pupilloplasty in a Child with Acoria, Microcornea and Nystagmus : A Case Report

Background: complex anterior segment anomalies (nystagmus, micro cornea, acoria, high IOP and iris coloboma) is a rare congenital anomaly characterized by the absence of a pupil, leading to severe visual impairment despite a clear cornea and lens ...
Fatima Ahmed Mohamed Sharif Sharif
core   +1 more source